Incidental Mutation 'IGL00901:Or12d2'
| ID |
29241 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or12d2
|
| Ensembl Gene |
ENSMUSG00000091531 |
| Gene Name |
olfactory receptor family 12 subfamily D member 2 |
| Synonyms |
Olfr102, MOR250-4, GA_x6K02T2PSCP-1775063-1774137 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL00901
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37624302-37625328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 37624598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 226
(K226Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169373]
[ENSMUST00000217590]
|
| AlphaFold |
B2RT33 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169373
AA Change: K226Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126737
Gene: ENSMUSG00000091531
AA Change: K226Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.6e-52 |
PFAM |
|
Pfam:7tm_1
|
39 |
289 |
8.3e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217590
AA Change: K226Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot6 |
A |
G |
12: 84,153,250 (GRCm39) |
Y164C |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,489,171 (GRCm39) |
S334P |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,612,118 (GRCm39) |
E129G |
probably damaging |
Het |
| Bmt2 |
G |
T |
6: 13,628,748 (GRCm39) |
H312N |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,893,400 (GRCm39) |
D189G |
probably damaging |
Het |
| Ces2g |
A |
G |
8: 105,691,761 (GRCm39) |
Y272C |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,669,162 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
C |
6: 18,268,429 (GRCm39) |
|
probably null |
Het |
| Clec2g |
A |
G |
6: 128,925,655 (GRCm39) |
|
probably benign |
Het |
| Cyp2b9 |
A |
T |
7: 25,897,930 (GRCm39) |
I245F |
probably damaging |
Het |
| Fbxo6 |
T |
A |
4: 148,230,600 (GRCm39) |
I221F |
probably damaging |
Het |
| Fbxw21 |
A |
C |
9: 108,985,467 (GRCm39) |
C104G |
probably benign |
Het |
| Flna |
A |
G |
X: 73,273,534 (GRCm39) |
S101P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,681,902 (GRCm39) |
F229I |
probably damaging |
Het |
| Map2k3 |
T |
C |
11: 60,832,747 (GRCm39) |
S31P |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,154,815 (GRCm39) |
D176G |
probably damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,992 (GRCm39) |
Y276C |
probably damaging |
Het |
| Or14j6 |
T |
A |
17: 38,215,148 (GRCm39) |
V237D |
probably damaging |
Het |
| Pde7b |
C |
T |
10: 20,494,875 (GRCm39) |
|
probably null |
Het |
| Polr3b |
T |
C |
10: 84,467,660 (GRCm39) |
I80T |
possibly damaging |
Het |
| Prpf4b |
T |
A |
13: 35,078,465 (GRCm39) |
Y692N |
probably damaging |
Het |
| Rabl2 |
T |
C |
15: 89,474,473 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,115,611 (GRCm39) |
K659R |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,716,934 (GRCm39) |
S774T |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,471,685 (GRCm39) |
T426M |
probably damaging |
Het |
| Serpinb10 |
A |
G |
1: 107,468,726 (GRCm39) |
K123R |
probably benign |
Het |
| Slc33a1 |
T |
C |
3: 63,871,433 (GRCm39) |
D60G |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,305,549 (GRCm39) |
Y92* |
probably null |
Het |
| Tvp23b |
T |
A |
11: 62,774,606 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
T |
A |
6: 119,937,669 (GRCm39) |
Q1218L |
probably damaging |
Het |
|
| Other mutations in Or12d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01947:Or12d2
|
APN |
17 |
37,624,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02164:Or12d2
|
APN |
17 |
37,624,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02465:Or12d2
|
APN |
17 |
37,624,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03095:Or12d2
|
APN |
17 |
37,624,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0712:Or12d2
|
UTSW |
17 |
37,624,975 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1572:Or12d2
|
UTSW |
17 |
37,624,371 (GRCm39) |
missense |
probably benign |
|
|
R1749:Or12d2
|
UTSW |
17 |
37,624,952 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3083:Or12d2
|
UTSW |
17 |
37,625,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4022:Or12d2
|
UTSW |
17 |
37,625,165 (GRCm39) |
missense |
probably benign |
|
|
R5203:Or12d2
|
UTSW |
17 |
37,625,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Or12d2
|
UTSW |
17 |
37,625,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Or12d2
|
UTSW |
17 |
37,625,183 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5488:Or12d2
|
UTSW |
17 |
37,624,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Or12d2
|
UTSW |
17 |
37,625,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Or12d2
|
UTSW |
17 |
37,624,816 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7473:Or12d2
|
UTSW |
17 |
37,624,522 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8110:Or12d2
|
UTSW |
17 |
37,624,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8887:Or12d2
|
UTSW |
17 |
37,624,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9400:Or12d2
|
UTSW |
17 |
37,624,554 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation